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A novel MPZL2 c.68delC variant is associated with progressive hearing loss in Chinese population and literature review
OBJECTIVE: The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss. METHODS: Two unrelated Chinese families were recruited. Genetic etiology was identified by targeted next‐generation sequencing (NGS) and verified by Sanger...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194966/ https://www.ncbi.nlm.nih.gov/pubmed/35734045 http://dx.doi.org/10.1002/lio2.829 |